Varaico: Literature-Extracted Genetic Variants

NR0B1

471 papers

RefSeq Summary

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein...

Pfam Domains

NR_Repeataa 1–49UCSCNuclear receptor repeat

NR_Repeataa 68–115UCSCNuclear receptor repeat

NR_Repeataa 134–182UCSCNuclear receptor repeat

NR_Repeataa 201–246UCSCNuclear receptor repeat

Hormone_recepaa 249–453UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 0 group B member 1

HGNC Previous Symbols

AHC; DSS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000475.5

p.L284del1

c.850_851delCAG

Surrounding Variants

2 papers

NM_000475.5

p.L284R

c.851T>G

1 paper

NM_000475.5

p.Q283Fs

c.849delinsCCFs

2 papers

NM_000475.5

p.Q283delins

c.848_849delinsCC

2 papers

NM_000475.5

p.Q283P

c.848A>C

1 paper

NM_000475.5

p.Q283fs

c.847_848fs

7 papers

NM_000475.5

p.Q283*

c.847C>T

1 paper

NM_000475.5

p.D281_Q282del2

c.841_845del6

8 papers

NM_000475.5

p.V287G

c.860T>G

3 papers

NM_000475.5

p.Q282*

c.844C>T

1 paper

NM_000475.5

p.V287del1

c.859_860delCAC

1 paper

NM_000475.5

p.L286_R288ins1

c.857_862dup6

1 paper

NM_000475.5

p.R288P

c.863G>C